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Publications

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2015
Loss of Function Mutations in NNT Are Associated with Left Ventricular Noncompaction., Bainbridge, Matthew N., Davis Erica E., Choi Wen-Yee, Dickson Amy, Martinez Hugo R., Wang Min, Dinh Huyen, Muzny Donna, Pignatelli Ricardo, Katsanis Nicholas, et al. , Circulation. Cardiovascular genetics, 2015 May 29, (2015) Abstract
Factors associated with blood lead concentrations of children in Jamaica., Rahbar, Mohammad H., Samms-Vaughan Maureen, Dickerson Aisha S., Loveland Katherine A., Ardjomand-Hessabi Manouchehr, Bressler Jan, Shakespeare-Pellington Sydonnie, Grove Megan L., and Boerwinkle Eric , Journal of environmental science and health. Part A, Toxic/hazardous substances & environmental engineering, 2015 May 12, Volume 50, Issue 6, p.529-39, (2015) Abstract
The GABA Transaminase, ABAT, Is Essential for Mitochondrial Nucleoside Metabolism., Besse, Arnaud, Wu Ping, Bruni Francesco, Donti Taraka, Graham Brett H., Craigen William J., McFarland Robert, Moretti Paolo, Lalani Seema, Scott Kenneth L., et al. , Cell metabolism, 2015 Mar 3, Volume 21, Issue 3, p.417-27, (2015) Abstract
DVL1 Frameshift Mutations Clustering in the Penultimate Exon Cause Autosomal-Dominant Robinow Syndrome., White, Janson, Mazzeu Juliana F., Hoischen Alexander, Jhangiani Shalini N., Gambin Tomasz, Alcino Michele Calijorne, Penney Samantha, Saraiva Jorge M., Hove Hanne, Skovby Flemming, et al. , American journal of human genetics, 2015 Mar 25, (2015) Abstract
A Massive Expansion of Effector Genes Underlies Gall-Formation in the Wheat Pest Mayetiola destructor., Zhao, Chaoyang, Escalante Lucio Navarro, Chen Hang, Benatti Thiago R., Qu Jiaxin, Chellapilla Sanjay, Waterhouse Robert M., Wheeler David, Andersson Martin N., Bao Riyue, et al. , Current biology : CB, 2015 Mar 2, Volume 25, Issue 5, p.613-20, (2015) Abstract
Homozygous loss-of-function mutations in SOHLH1 in patients with non-syndromic hypergonadotropic hypogonadism., Bayram, Yavuz, Gulsuner Suleyman, Guran Tulay, Abaci Ayhan, Yesil Gozde, Gulsuner Hilal Unal, Atay Zeynep, Pierce Sarah B., Gambin Tomasz, Lee Ming, et al. , The Journal of clinical endocrinology and metabolism, 2015 Mar 16, p.jc20151150, (2015) Abstract
Roger et Al. Respond to "future of population studies"., Roger, Véronique L., Boerwinkle Eric, Crapo James D., Douglas Pamela S., Epstein Jonathan A., Granger Christopher B., Greenland Philip, Kohane Isaac, and Psaty Bruce M. , American journal of epidemiology, 2015 Mar 15, Volume 181, Issue 6, p.372-3, (2015)
Strategic transformation of population studies: recommendations of the working group on epidemiology and population sciences from the national heart, lung, and blood advisory council and board of external experts., Roger, Véronique L., Boerwinkle Eric, Crapo James D., Douglas Pamela S., Epstein Jonathan A., Granger Christopher B., Greenland Philip, Kohane Isaac, and Psaty Bruce M. , American journal of epidemiology, 2015 Mar 15, Volume 181, Issue 6, p.363-8, (2015) Abstract
Convergent evolution of the genomes of marine mammals., Foote, Andrew D., Liu Yue, Thomas Gregg W. C., Vinař Tomáš, Alföldi Jessica, Deng Jixin, Dugan Shannon, van Elk Cornelis E., Hunter Margaret E., Joshi Vandita, et al. , Nature genetics, 2015 Mar, Volume 47, Issue 3, p.272-5, (2015) Abstract
FOXO1 is Required for Binding of PR on IRF4, Novel Transcriptional Regulator of Endometrial Stromal Decidualization., Vasquez, Yasmin M., Mazur Erik C., Li Xilong, Kommagani Ramakrishna, Jiang Lichun, Chen Rui, Lanz Rainer B., Kovanci Ertug, Gibbons William E., and DeMayo Francesco J. , Molecular endocrinology (Baltimore, Md.), 2015 Mar, Volume 29, Issue 3, p.421-33, (2015) Abstract
Genomic Signatures of Cooperation and Conflict in the Social Amoeba., Ostrowski, Elizabeth A., Shen Yufeng, Tian Xiangjun, Sucgang Richard, Jiang Huaiyang, Qu Jiaxin, Katoh-Kurasawa Mariko, Brock Debra A., Dinh Christopher, Lara-Garduno Fremiet, et al. , Current biology : CB, 2015 Jun 15, Volume 25, Issue 12, p.1661-5, (2015) Abstract
The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities., Chong, Jessica X., Buckingham Kati J., Jhangiani Shalini N., Boehm Corinne, Sobreira Nara, Smith Joshua D., Harrell Tanya M., McMillin Margaret J., Wiszniewski Wojciech, Gambin Tomasz, et al. , American journal of human genetics, 2015 Jul 8, (2015) Abstract
Association of Rare Loss-Of-Function Alleles in HAL, Serum Histidine Levels and Incident Coronary Heart Disease., Yu, Bing, Li Alexander H., Muzny Donna, Veeraraghavan Narayanan, de Vries Paul S., Bis Joshua C., Musani Solomon K., Alexander Danny, Morrison Alanna C., Franco Oscar H., et al. , Circulation. Cardiovascular genetics, 2015 Jan 8, (2015) Abstract
Identifying gene disruptions in novel balanced de novo constitutional translocations in childhood cancer patients by whole-genome sequencing., Ritter, Deborah I., Haines Katherine, Cheung Hannah, Davis Caleb F., Lau Ching C., Berg Jonathan S., Brown Chester W., Thompson Patrick A., Gibbs Richard, Wheeler David A., et al. , Genetics in medicine : official journal of the American College of Medical Genetics, 2015 Jan 8, (2015) Abstract
Identifying gene disruptions in novel balanced de novo constitutional translocations in childhood cancer patients by whole-genome sequencing., Ritter, Deborah I., Haines Katherine, Cheung Hannah, Davis Caleb F., Lau Ching C., Berg Jonathan S., Brown Chester W., Thompson Patrick A., Gibbs Richard, Wheeler David A., et al. , Genetics in medicine : official journal of the American College of Medical Genetics, 2015 Jan 8, (2015) Abstract
Dnmt3a loss predisposes murine hematopoietic stem cells to malignant transformation., Mayle, Allison, Yang Liubin, Rodriguez Benjamin, Zhou Ting, Chang Edmund, Curry Choladda V., Challen Grant A., Li Wei, Wheeler David, Rebel Vivienne I., et al. , Blood, 2015 Jan 22, Volume 125, Issue 4, p.629-38, (2015) Abstract
Coronary heart disease and genetic variants with low phospholipase A2 activity., Polfus, Linda M., Gibbs Richard A., and Boerwinkle Eric , The New England journal of medicine, 2015 Jan 15, Volume 372, Issue 3, p.295-6, (2015)
Blood lead concentrations in Jamaican children with and without autism spectrum disorder., Rahbar, Mohammad H., Samms-Vaughan Maureen, Dickerson Aisha S., Loveland Katherine A., Ardjomand-Hessabi Manouchehr, Bressler Jan, Shakespeare-Pellington Sydonnie, Grove Megan L., Pearson Deborah A., and Boerwinkle Eric , International journal of environmental research and public health, 2015 Jan, Volume 12, Issue 1, p.83-105, (2015) Abstract
Germline mutations in shelterin complex genes are associated with familial glioma., Bainbridge, Matthew N., Armstrong Georgina N., Gramatges Monica M., Bertuch Alison A., Jhangiani Shalini N., Doddapaneni Harsha, Lewis Lora, Tombrello Joseph, Tsavachidis Spyros, Liu Yanhong, et al. , Journal of the National Cancer Institute, 2015 Jan, Volume 107, Issue 1, (2015) Abstract
Germline mutations in shelterin complex genes are associated with familial glioma., Bainbridge, Matthew N., Armstrong Georgina N., Gramatges Monica M., Bertuch Alison A., Jhangiani Shalini N., Doddapaneni Harsha, Lewis Lora, Tombrello Joseph, Tsavachidis Spyros, Liu Yanhong, et al. , Journal of the National Cancer Institute, 2015 Jan, Volume 107, Issue 1, p.384, (2015) Abstract
Initial testing (stage 1) of the PARP inhibitor BMN 673 by the pediatric preclinical testing program: PALB2 mutation predicts exceptional in vivo response to BMN 673., Smith, Malcolm A., Hampton Oliver A., Reynolds Patrick C., Kang Min H., Maris John M., Gorlick Richard, Kolb Anders E., Lock Richard, Carol Hernan, Keir Stephen T., et al. , Pediatric blood & cancer, 2015 Jan, Volume 62, Issue 1, p.91-8, (2015) Abstract
Recurrent DGCR8, DROSHA, and SIX homeodomain mutations in favorable histology Wilms tumors., Walz, Amy L., Ooms Ariadne, Gadd Samantha, Gerhard Daniela S., Smith Malcolm A., Guidry Auvil Jamie M., Meerzaman Daoud, Chen Qing-Rong, Hsu Chih Hao, Yan Chunhua, et al. , Cancer cell, 2015 Feb 9, Volume 27, Issue 2, p.286-97, (2015) Abstract
Multi-Ethnic Genome-Wide Association Study of Cerebral White Matter Hyperintensities on MRI., Verhaaren, Benjamin F. J., Debette Stéphanie, Bis Joshua C., Smith Jennifer A., Ikram Kamran M., Adams Hieab H., Beecham Ashley H., Rajan Kumar B., Lopez Lorna M., Barral Sandra, et al. , Circulation. Cardiovascular genetics, 2015 Feb 7, (2015) Abstract
Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction., Do, Ron, Stitziel Nathan O., Won Hong-Hee, Jørgensen Anders Berg, Duga Stefano, Angelica Merlini Pier, Kiezun Adam, Farrall Martin, Goel Anuj, Zuk Or, et al. , Nature, 2015 Feb 5, Volume 518, Issue 7537, p.102-6, (2015) Abstract
Structure-activity analysis of human ghrelin O-acyltransferase reveals chemical determinants of ghrelin selectivity and acyl group recognition., Darling, Joseph E., Zhao Feifei, Loftus Rosemary J., Patton Leslie M., Gibbs Richard A., and Hougland James L. , Biochemistry, 2015 Feb 3, Volume 54, Issue 4, p.1100-10, (2015) Abstract


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